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Related Experiment Videos

Sanfilippo syndrome type D in two adolescent sisters.

L Siciliano1, A Fiumara, L Pavone

  • 1Joseph P Kennedy Jr Mental Retardation Research Center, University of Chicago.

Journal of Medical Genetics
|June 1, 1991
PubMed
Summary

Two adolescent sisters with Sanfilippo syndrome type D, the oldest reported cases, show unique clinical features. Their enzyme deficiency suggests abnormal protein translation or degradation, offering new insights into the disease course.

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Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Background:

  • Sanfilippo syndrome type D is a rare genetic disorder.
  • It is characterized by the accumulation of specific glycosaminoglycans.
  • Deficiency in N-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sulphatase) is the hallmark of type D.

Observation:

  • Two adolescent sisters presented with Sanfilippo syndrome type D.
  • They exhibited distinct clinical features compared to previously described cases.
  • These patients represent the oldest reported cases of this syndrome to date.

Findings:

  • Fibroblast analysis confirmed a deficiency in GlcNAc-6S sulphatase enzyme activity and immunoreactivity.
  • Northern blot analysis revealed normal messenger RNA (mRNA) levels for the GlcNAc-6S sulphatase gene.

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  • This discrepancy points towards post-transcriptional or post-translational mechanisms causing the enzyme defect.

    • Implications:

    • These findings suggest that abnormal protein translation or premature degradation of the enzyme may underlie the observed GlcNAc-6S sulphatase deficiency.
    • The study provides novel insights into the molecular pathology and clinical variability of Sanfilippo syndrome type D.
    • Understanding these mechanisms could inform future therapeutic strategies for this rare lysosomal storage disorder.